Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

BACKGROUND: The VACTERL with hydrocephalus (VACTERL‐H) phenotype is recognised to be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have been described in which the VACTERL‐H phenotype segregates as an X linked syndrome. The mutations which cause X linked VACTERL‐H s...

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Autores principales: Holden, S T, Cox, J J, Kesterton, I, Thomas, N S, Carr, C, Woods, C G
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2006
Materias:
Short Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564576/
https://ncbi.nlm.nih.gov/pubmed/16679491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.041673
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